Expectations. I think the biggest issue, besides my inherent dislike of the teaching university approach to medicine, was a failure to match up expectations. My expectations for the appointment with the specialist, the neurogenetics specialist, was that he would be offering a second opinion and possibly assist in naming the overall syndrome that has caused the dysautonomia, the immune system difficulties, the ataxia, the sensory losses, and the abnormal muscle tone. These expectations came from the fact that my neurologist whom I adore sent me to him for his opinion on whether or not this is progressive spastic paraparesis and for a diagnostic second opinion. The doctor's expectations seem to have been that he would provide a diagnosis for the symptoms and begin a treatment plan, but not address the overlying issues or try to put the pieces together. Thus when he made the "profound announcement" that my feet and lower legs seem to have dystonia I was less than impressed. We went through that diagnosis months ago. I was hoping for something new. I already knew I have "dystonia" - abnormal muscle tone- in my legs. We need to know WHY and regarding that all he could say was that he was puzzled. Really? I drove 2 hours each way and waited 3 months to see you to get a diagnosis I already had and to have another doctor admit that they are puzzled? He thought he was accomplishing something great by pronouncing it dystonia, and I was just trying not to cry because we were back to where we were months ago. He even reverted back to the "toxic medication" diagnosis that was tried back in December 2008 and debunked when I was removed from virtually all of my medications and continued to get sicker. So with that off the table, he proposed some treatments. One, I have to stop taking the Reglan that I just started a month ago because Reglan can cause and aggravate dystonia. The only problem is that the reglan is what is allowing my digestive system to function and for food to progress out of my stomach in anything near a normal time frame. So now I am stuck trying to problem solve with my internal medicine doctor (I do not have a GI doctor, and really don't want to add to the village of doctors) something that will help because otherwise by dinner I still have breakfast sitting in my stomach. Then he wanted me to start on L-Dopa a few weeks after the reglan cleared my system. Something about L-Dopa triggered a warning in my mind but I could not pull to memory why. Of course it was not until after I got home that I remembered why L-Dopa was setting off alarms. In college I was given L-Dopa to try and treat muscle spasms associated with restless leg syndrome and had a horrific reaction to it that caused hallucinations and very abnormal behavior throughout the night. I prefer not to see things that are not really there, so I need to talk to MY neurologist and see what we can do for an alternative plan. The doctor at U of M also seemed to think he was taking over my care, but that was not my expectation and is not something I am agreeing to unless the doctor I currently see refuses to be my neurologist anymore. I trust her more, I prefer her style of medication, and she "gets me" better - she listens when I talk, she appreciates my knowledge base, she treats me as part of my own medical team. Yesterday I was treated repeatedly as if I were a teenager instead of a closer to 30 than anything adult. Curses upon looking so darn young for my age. The doctors also overlooked critical information like the newly emerged heart murmur, the association of the onset of muscle weakness with the inability to eat, the fact that my legs turn "cadaver leg" purple/gray after standing for just a few minutes, the loss of sensation, and the pain after using muscles as well as weakness and fatigue. While I am thankful the doctor confirmed that there is indeed something abnormal going on, I am frustrated that my expectations and his did not overlap virtually at all. I now hope when I meet with my neurologist (she said to see her after this appointment) we can discuss these expectations, my experience, and how to incorporate this into what she already believed and knew and go forward from here. Two steps forward, two steps back, but at least steps are still being taken.

I feel your disappointment, Friend. Boo and boohoo! Wishing I could have been there with you at the appt. to question the doc - anything to get him to give-up more than what he gave.

Perhaps there are better formulations of L-dopa on the market than you had previously. Reglan can't be the only thing to work your gi system. And wouldn't it be wonderful if you found out the dystonia was significantly reduced after switching to something other than Reglan?

Do you follow a blog called Connor's Song? Connor has some very unusual circulatory issues. His mom does not post on that issue everyday, but she is pretty savy and might give you some clues where to look regarding your rainbow legs.

I am reminding myself that you do have family around you - to make myself feel better. I wish you a relaxed, enjoyable, blessed Christmas celebration - with all my heart. Barbara

Wild Olive

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Creative Victory

This is Me

I am a thirty year old enigma who has defied every expectation ever placed upon me and refused every definition created for me. My greatest passion in life is to make a difference in the lives of children with special needs and their families. As a special education teacher I broke all of the unwritten rules to make sure that my kids received the services they needed and had a right to receive. I have never been so proud to be reprimanded before in my life. Now, due to unpredictable twists in life, I am learning first hand what life is like when you rely upon a wheelchair for mobility. I am a medical puzzle with the pieces slowly being identified and put together, and my medical bills alone could fund a small nation. It takes a village to keep me alive. :) However, I am not defined by the genetic misspellings. I am a teacher, a daughter, an aunt, a friend, a dreamer, a reader, an amateur photographer, a writer, an advocate, a star gazer, a world changer. I am stubborn, situationally shy, quick to use humor and wit to make others laugh or cope with a situation, sarcastic, fiercely independent, giving, compassionate (sometimes to a fault), protective of those I love, defiant of arbitrary boundaries, perfectionistic, self conscious, self assured (yes you can be both!), articulate and occasionally dramatic. And that is just what I could fit in two sentences! :)

Who's On First, What's On Second, I Don't Know! (Third Base!!)*

Simple Vocabulary Definitions for those who may not speak fluent medical :)

Undiagnosed Progressive Neurological Disorder- This is the diagnosis that is believed to make everything else fit together. It explains my frequent infections, my muscle weakness and dystonia, my dysautonomia, my cardiac issues, my inability to regulate blood pressure, my dysphagia, my ataxia, my severe fatigue, my extreme nausea, my gastrointestinal dysmotility and IBS like syndrome, my unbelievable migraines, my sensory changes in my arms and legs, my vision issues, my hearing loss (so much for blaming medication), and so much more. Going back to infancy and childhood, this would explain the severe apnea, the significantly delayed motor skills, the reason why I could never keep up with my peers in physical activities, the neurogenic bladder, the malfunctioning thyroid, and my frequent illnesses and vomiting. This is the diagnosis now being used since the DNA testing for Mitochondrial Disease came back odd and I can not afford the expenses of a workup at the Mayo Clinic. We are treating symptomatically.

Pan-Dysautonomia- "Pan" means that it impacts many different systems of my body, "dysautonomia" is a failure of my autonomic nervous system or the part of my brain that does all of the automatic things that do not require conscious thought like telling your heart to beat, regulating your blood pressure, adjusting your body temperature, maintaining balance in space, digesting food, hunger and thirst, etc. It is believed that I have had this from birth based upon my history of symptoms, including severe life threatening apnea as an infant, but the cause remains elusive at this time

Dystonia- abnormal muscle tone and spasticity, including painful spasms, that primarily impacts my feet and lower legs and is now starting to be a problem in my back